Canonical Allele Identifier: CA343644347
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs1297010803
gnomAD v2: 1-182555362-C-T
gnomAD v4: 1-182586227-C-T
MyVariant Identifiers: chr1:g.182555362C>T (hg19) chr1:g.182586227C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586227C>T , CM000663.2:g.182586227C>T GRCh38
NC_000001.10:g.182555362C>T , CM000663.1:g.182555362C>T GRCh37
NC_000001.9:g.180821985C>T NCBI36
NG_009024.2:g.5747G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.580G>A MANE Select ENSP00000356530.3:p.Asp194Asn
ENST00000539397.1:c.580G>A ENSP00000440844.1:p.Asp194Asn
NM_021133.3:c.580G>A NP_066956.1:p.Asp194Asn
XM_005245411.2:c.580G>A XP_005245468.1:p.Asp194Asn
XR_001737359.1:n.863G>A
XR_001737360.1:n.863G>A
NM_021133.4:c.580G>A MANE Select NP_066956.1:p.Asp194Asn
Search 100 bp 5'
Search 100 bp 3'